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Article

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.

American journal of medical genetics. Part A - 1 Jul 2025

Di Letto Pasquale, Budillon Alberto, Rahman Sarah Iffat, Del Vecchio Blanco Francesca, Zanobio Mariateresa, Scarpato Margherita, Russo Margherita, Onore Maria Elena, Piluso Giulio, Nigro Vincenzo, Scarano Gioacchino, Torella Annalaura

Abstract excerpt

Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations. The syndrome is caused by haploinsufficiency of the NSD1 gene, with no evidence of...

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Identifiers

PMID: 40062685
DOI: 10.1002/ajmg.a.64039

Genes

NSD1

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Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.PMID 40062685Read ↗

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[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].Semantic proximity Read ↗

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